Anti-POMT1 Antibody Picoband® HRP-vervoeging

Protein O-mannosyl-transferase 1 is an enzyme that in humans is encoded by the POMT1 gene. The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K) . Several transcript variants encoding different isoforms have been found for this gene.

POMT1; Protein O-mannosyl-transferase 1; EC 2.4.1.109; Dolichyl-phosphate-mannose--protein mannosyltransferase 1

POMT1

10585

Q9Y6A1

Human, Rat

No cross-reactivity with other proteins

E.coli-derived human POMT1 recombinant protein (Position: H224-H747) . Human POMT1 shares 81.1% and 80.9% amino acid (aa) sequence identity with mouse and rat POMT1, respectively.

WB, IHC, ELISA

Immunogen affinity purified.

Liquid

1. Balci, B., Uyanik, G., Dincer, P., Gross, C., Willer, T., Talim, B., Haliloglu, G., Kale, G., Hehr, U., Winkler, J., Topaloglu, H. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. Neuromusc. Disord. 15: 271-275, 2005. 2. Bello, L., Melacini, P., Pezzani, R., D'Amico, A., Piva, L., Leonardi, E., Torella, A., Soraru, G., Palmieri, A., Smaniotto, G., Gavassini, B. F., Vianello, A., Nigro, V., Bertini, E., Angelini, C., Tosatto, S. C. E., Pegoraro, E. Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy. Europ. J. Hum. Genet. 20: 1234-1239, 2012. 3. Beltran-Valero de Bernabe, D., Currier, S., Steinbrecher, A., Celli, J., van Beusekom, E., van der Zwaag, B., Kayserili, H., Merlini, L., Chitayat, D., Dobyns, W. B., Cormand, B., Lehesjoki, A.-E., Cruces, J., Voit, T., Walsh, C. A., van Bokhoven, H., Brunner, H. G. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am. J. Hum. Genet. 71: 1033-1043, 2002.

At -20 ̊C for one year from date of receipt. Avoid repeated freezing and thawing.

85 kDa

Protein O-mannosyltransferase 1

Protein O-mannosyl-transferase 1

Rabbit IgG

Each vial contains 50% glycerol, 0.9% NaCl, 0.2% Na2HPO4.